Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research focused on Genetics and Penetrance, with related work in Autism, Computational biology, Neuroscience. Notable publications include 'The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population', 'Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes', and 'Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus'.
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
<i>TRIM71</i> mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
<i>De novo</i> variants disrupt an <i>LDB1</i> -regulated transcriptional network in congenital ventriculomegaly
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
The clinical and genetic spectrum of autosomal-recessive <i>TOR1A</i>-related disorders
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
A framework for the investigation of rare genetic disorders in neuropsychiatry
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy
The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population
The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions
Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci
Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes
Rare copy number variation in cerebral palsy
Genetic insights into the causes and classification of the cerebral palsies
Quantitative Proteomic and Genetic Analyses of the Schizophrenia Susceptibility Factor Dysbindin Identify Novel Roles of the Biogenesis of Lysosome-Related Organelles Complex 1